Incidental Mutation 'R3715:Stox2'
ID 259853
Institutional Source Beutler Lab
Gene Symbol Stox2
Ensembl Gene ENSMUSG00000038143
Gene Name storkhead box 2
Synonyms 4933409N07Rik
MMRRC Submission 040708-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.176) question?
Stock # R3715 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 47633083-47866943 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47866187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 52 (I52F)
Ref Sequence ENSEMBL: ENSMUSP00000148776 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000211882]
AlphaFold Q499E5
Predicted Effect unknown
Transcript: ENSMUST00000074466
AA Change: D8E
SMART Domains Protein: ENSMUSP00000074064
Gene: ENSMUSG00000060559
AA Change: D8E

DomainStartEndE-ValueType
low complexity region 18 36 N/A INTRINSIC
low complexity region 110 128 N/A INTRINSIC
low complexity region 179 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181417
Predicted Effect possibly damaging
Transcript: ENSMUST00000211882
AA Change: I52F

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
Meta Mutation Damage Score 0.0824 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 98% (52/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310079G19Rik T C 16: 88,424,081 (GRCm39) M137V probably benign Het
9930111J21Rik1 T C 11: 48,838,803 (GRCm39) T595A possibly damaging Het
Aaas T C 15: 102,248,771 (GRCm39) I236V probably benign Het
Abcd4 C T 12: 84,658,533 (GRCm39) M223I probably benign Het
Adamtsl1 T A 4: 86,135,213 (GRCm39) I246N probably benign Het
Ak9 A G 10: 41,233,508 (GRCm39) D582G probably damaging Het
Aqr A G 2: 113,949,150 (GRCm39) probably benign Het
Bmal2 A G 6: 146,724,187 (GRCm39) K360E probably damaging Het
Cacna2d3 T C 14: 29,068,880 (GRCm39) I282M probably damaging Het
Cers3 G T 7: 66,435,823 (GRCm39) A261S probably benign Het
Dexi A T 16: 10,360,553 (GRCm39) M1K probably null Het
Dlat A G 9: 50,549,354 (GRCm39) V510A probably damaging Het
Eaf1 T C 14: 31,224,402 (GRCm39) I173T possibly damaging Het
Elavl3 G T 9: 21,929,895 (GRCm39) D336E probably benign Het
Epm2a A G 10: 11,219,420 (GRCm39) Y69C probably benign Het
Fam168a A G 7: 100,473,432 (GRCm39) N107S probably damaging Het
Fam43b G C 4: 138,122,409 (GRCm39) R304G probably benign Het
Fras1 T C 5: 96,793,829 (GRCm39) probably null Het
Fscn3 C T 6: 28,428,091 (GRCm39) T26I possibly damaging Het
Glt8d2 C A 10: 82,488,571 (GRCm39) A300S probably benign Het
Hcn4 G A 9: 58,751,319 (GRCm39) R315H unknown Het
Lipk A G 19: 34,017,829 (GRCm39) N289S probably damaging Het
Lyg1 G T 1: 37,989,759 (GRCm39) R43S probably damaging Het
Marchf6 A G 15: 31,465,405 (GRCm39) L833P probably benign Het
Mc4r T A 18: 66,992,892 (GRCm39) N74Y probably damaging Het
Med17 G A 9: 15,175,062 (GRCm39) probably benign Het
Mink1 G T 11: 70,499,776 (GRCm39) R773L possibly damaging Het
Myo15a A T 11: 60,370,057 (GRCm39) E939V possibly damaging Het
Ndst4 A T 3: 125,355,154 (GRCm39) H354L possibly damaging Het
Or2t26 T C 11: 49,039,642 (GRCm39) L186P probably damaging Het
Or4c15 A G 2: 88,759,757 (GRCm39) W301R probably benign Het
Or4p22 C A 2: 88,317,787 (GRCm39) T237N probably damaging Het
Otof T A 5: 30,534,215 (GRCm39) K1397* probably null Het
Rangap1 C A 15: 81,594,661 (GRCm39) E389D probably benign Het
Rbfox2 A G 15: 76,983,451 (GRCm39) I270T probably damaging Het
Rnf217 G T 10: 31,410,728 (GRCm39) C322* probably null Het
Sbk1 A G 7: 125,889,183 (GRCm39) T50A probably benign Het
Shmt1 T C 11: 60,688,402 (GRCm39) T248A probably damaging Het
Smim29 G A 17: 27,785,043 (GRCm39) probably benign Het
Sox30 C T 11: 45,875,619 (GRCm39) T457I probably damaging Het
Syncrip A T 9: 88,361,738 (GRCm39) probably benign Het
Tars3 G A 7: 65,338,700 (GRCm39) probably null Het
Tdrd12 T C 7: 35,204,405 (GRCm39) E235G probably benign Het
Tmem82 A T 4: 141,344,945 (GRCm39) probably null Het
Tro T C X: 149,437,230 (GRCm39) T476A probably damaging Het
Ttn G A 2: 76,561,363 (GRCm39) P27302S probably damaging Het
Ttn C T 2: 76,571,610 (GRCm39) V26428I probably damaging Het
Usp53 T C 3: 122,742,968 (GRCm39) E656G probably benign Het
Vmn2r100 A G 17: 19,752,272 (GRCm39) R772G probably damaging Het
Xkr5 T C 8: 18,984,474 (GRCm39) E190G probably benign Het
Zfp236 A G 18: 82,651,095 (GRCm39) probably benign Het
Zfr2 T G 10: 81,081,913 (GRCm39) V493G probably benign Het
Zp2 A T 7: 119,741,057 (GRCm39) S156T possibly damaging Het
Zswim5 A G 4: 116,819,755 (GRCm39) T387A probably benign Het
Other mutations in Stox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Stox2 APN 8 47,646,647 (GRCm39) missense probably damaging 1.00
IGL02331:Stox2 APN 8 47,644,979 (GRCm39) missense probably damaging 0.96
IGL02399:Stox2 APN 8 47,639,573 (GRCm39) missense probably damaging 0.99
IGL03091:Stox2 APN 8 47,646,222 (GRCm39) missense possibly damaging 0.66
IGL03143:Stox2 APN 8 47,646,839 (GRCm39) missense possibly damaging 0.78
IGL03307:Stox2 APN 8 47,647,065 (GRCm39) missense probably damaging 1.00
R0082:Stox2 UTSW 8 47,656,317 (GRCm39) splice site probably benign
R0313:Stox2 UTSW 8 47,645,169 (GRCm39) missense probably damaging 1.00
R0382:Stox2 UTSW 8 47,656,319 (GRCm39) splice site probably benign
R0513:Stox2 UTSW 8 47,646,900 (GRCm39) missense probably damaging 1.00
R0539:Stox2 UTSW 8 47,647,070 (GRCm39) missense probably damaging 0.97
R0920:Stox2 UTSW 8 47,646,053 (GRCm39) missense probably damaging 1.00
R1764:Stox2 UTSW 8 47,647,051 (GRCm39) nonsense probably null
R1923:Stox2 UTSW 8 47,646,661 (GRCm39) missense probably damaging 1.00
R2311:Stox2 UTSW 8 47,645,013 (GRCm39) missense probably damaging 1.00
R3196:Stox2 UTSW 8 47,645,865 (GRCm39) missense probably damaging 0.99
R4300:Stox2 UTSW 8 47,647,027 (GRCm39) nonsense probably null
R4534:Stox2 UTSW 8 47,646,414 (GRCm39) missense probably damaging 1.00
R4600:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4601:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4602:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4603:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4610:Stox2 UTSW 8 47,645,970 (GRCm39) missense probably damaging 1.00
R4624:Stox2 UTSW 8 47,646,851 (GRCm39) missense probably damaging 1.00
R4672:Stox2 UTSW 8 47,645,141 (GRCm39) missense probably damaging 1.00
R4888:Stox2 UTSW 8 47,656,198 (GRCm39) missense probably damaging 1.00
R4944:Stox2 UTSW 8 47,866,300 (GRCm39) missense possibly damaging 0.46
R5331:Stox2 UTSW 8 47,866,662 (GRCm39) utr 5 prime probably benign
R5349:Stox2 UTSW 8 47,740,951 (GRCm39) missense possibly damaging 0.70
R5367:Stox2 UTSW 8 47,656,260 (GRCm39) missense probably damaging 1.00
R5471:Stox2 UTSW 8 47,646,548 (GRCm39) missense probably damaging 0.96
R5561:Stox2 UTSW 8 47,646,041 (GRCm39) missense probably damaging 1.00
R5630:Stox2 UTSW 8 47,644,925 (GRCm39) missense probably damaging 1.00
R5719:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5733:Stox2 UTSW 8 47,866,172 (GRCm39) nonsense probably null
R5996:Stox2 UTSW 8 47,656,182 (GRCm39) missense possibly damaging 0.93
R6170:Stox2 UTSW 8 47,645,055 (GRCm39) missense probably benign 0.02
R6458:Stox2 UTSW 8 47,645,079 (GRCm39) missense possibly damaging 0.66
R6786:Stox2 UTSW 8 47,639,500 (GRCm39) missense probably damaging 1.00
R6815:Stox2 UTSW 8 47,646,136 (GRCm39) missense probably damaging 1.00
R6951:Stox2 UTSW 8 47,656,167 (GRCm39) missense probably damaging 1.00
R7193:Stox2 UTSW 8 47,639,489 (GRCm39) missense probably benign
R7330:Stox2 UTSW 8 47,645,271 (GRCm39) missense possibly damaging 0.61
R7552:Stox2 UTSW 8 47,656,154 (GRCm39) critical splice donor site probably null
R8001:Stox2 UTSW 8 47,639,512 (GRCm39) missense probably benign 0.06
R8266:Stox2 UTSW 8 47,645,060 (GRCm39) missense probably damaging 0.99
R8506:Stox2 UTSW 8 47,645,108 (GRCm39) missense possibly damaging 0.79
R8935:Stox2 UTSW 8 47,645,895 (GRCm39) missense possibly damaging 0.66
R9261:Stox2 UTSW 8 47,645,441 (GRCm39) missense possibly damaging 0.78
R9325:Stox2 UTSW 8 47,647,095 (GRCm39) missense probably benign 0.45
R9505:Stox2 UTSW 8 47,645,304 (GRCm39) missense probably benign 0.28
X0027:Stox2 UTSW 8 47,646,875 (GRCm39) missense possibly damaging 0.95
Z1177:Stox2 UTSW 8 47,647,085 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTCCAAGTGCCCTAAAGTCCC -3'
(R):5'- CGATGCCTGGTTAAGATGGAG -3'

Sequencing Primer
(F):5'- TCACCCAAGCAGCGGATCTG -3'
(R):5'- AGAAGTTTCTGCAGATCGCGC -3'
Posted On 2015-01-23